Likely inborn error of metabolism

Gene: NFS1

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.

Panel Version: 3.6

Green List (high evidence)

Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS review - associated with relevant phenotype in OMIM (MIM#619386) but not yet in G2P. At least one variant reported in six cases from two unrelated families, together with supportive functional studies.

Created: 31 Aug 2022, 8:49 a.m. | Last Modified: 31 Aug 2022, 8:49 a.m.

Panel Version: 2.310

Additional paper - PMID 33457206: reporting a second family (consanguineous) with three affected children and supportive functional data. Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background. Suggests this is a mutation hotspot.

Created: 31 Aug 2022, 8:49 a.m. | Last Modified: 31 Aug 2022, 8:49 a.m.

Panel Version: 2.309

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 52, OMIM: 619386

Publications

• 24498631
• 33457206

Red List (low evidence)

No further variants have been reported in the literature to date (21/10/2019).

Created: 21 Oct 2019, 3:17 p.m. | Last Modified: 21 Oct 2019, 3:17 p.m.

Panel Version: 1.373

No additional reports were found so therefore this gene will remain a red gene until further evidence is available.

Created: 2 May 2019, 2:57 p.m.

Red List (low evidence)

I can only find a single family reported in the literature.

Created: 31 Aug 2018, 4:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 24498631

Green List (high evidence)